Journal of Medical Genetics: 41 (1)

Hypothesis

BRCA1 functions as a breast stem cell regulator (16 January, 2004) Free
W D Foulkes

Electronic letters

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation (16 January, 2004) Free
N Jamshidi, I Macciocca, P A Dargaville, P Thomas, N Kilpatrick, R J McKinlay Gardner, P G Farlie
Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE (16 January, 2004) Free
S Koskenmies, P Lahermo, H Julkunen, V Ollikainen, J Kere, E Widén
Induction of instability of normal length trinucleotide repeats within human disease genes (16 January, 2004) Free
L Fernàndez-López, E Piñeiro, R Marcos, A Velázquez, J Surrallés
Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes (16 January, 2004) Free
C Gicquel, J Weiss, J Amiel, V Gaston, Y Le Bouc, C D Scott
Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis (16 January, 2004) Free
J Esparza-Gordillo, J M Soria, A Buil, J C Souto, L Almasy, J Blangero, S R de Córdoba, J Fontcuberta
Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil (16 January, 2004) Free
D F Sena, S Finzi, K Rodgers, E Del Bono, J L Haines, J L Wiggs
No evidence of an association between the T16189C mtDNA variant and late onset dementia (16 January, 2004) Free
A M Gibson, J A Edwardson, D M Turnbull, I G McKeith, C M Morris, P F Chinnery

Original article

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading (16 January, 2004) Free
K J Livesey, V L C Wimhurst, K Carter, M Worwood, E Cadet, J Rochette, A G Roberts, J J Pointon, A T Merryweather-Clarke, M L Bassett, A-M Jouanolle, A Mosser, V David, J Poulton, K J H Robson

Online mutation reports

Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders (16 January, 2004) Free
K Ohno, A G Engel
A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss (16 January, 2004) Free
I Nagy, M Horváth, M Trexler, G Répássy, L Patthy
Clinical and genetic characteristics of α cardiac actin gene mutations in hypertrophic cardiomyopathy (16 January, 2004) Free
J Mogensen, A Perrot, P S Andersen, O Havndrup, I C Klausen, M Christiansen, P Bross, H Egeblad, H Bundgaard, K J Osterziel, G Haltern, H Lapp, P Reinecke, N Gregersen, A D Børglum
Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis (16 January, 2004) Free
A Plawski, J Lubiński, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brożek, D Nowakowska, E Czkwaniec, P Krokowicz, M Drews, J Zeyland, W Juzwa, R Słomski
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A (16 January, 2004) Free
K Goto, I Nishino, Y K Hayashi

Echoes

Heart disease common in Leber’s optic neuropathy (16 January, 2004) Free
Growing up abolishes a genetic protection against asthma (16 January, 2004) Free
DQB1 alleles affect susceptibility to pulmonary TB in Europeans (16 January, 2004) Free
BRAF mutations in cholangiocarcinoma (16 January, 2004) Free
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A (16 January, 2004) Free
A new PHOX2B polymorphism is associated with Hirschsprung’s disease (16 January, 2004) Free

Short reports

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3 (16 January, 2004) Free
R L Snoeckx, H Kremer, R J H Ensink, K Flothmann, A de Brouwer, R J H Smith, C W R J Cremers, G Van Camp
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome (16 January, 2004) Free
P Bénit, A Slama, F Cartault, I Giurgea, D Chretien, S Lebon, C Marsac, A Munnich, A Rötig, P Rustin

Letters to JMG

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC (16 January, 2004) Free
F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, M-P Buisine, M Nilbert, A Lindblom, T Frebourg
Common apolipoprotein E polymorphisms and risk of clinical malaria in the Gambia (16 January, 2004) Free
C Aucan, A J Walley, A V S Hill
Refining the phenotype of common mutations in Rett syndrome (16 January, 2004) Free
L Colvin, H Leonard, N de Klerk, M Davis, L Weaving, S Williamson, J Christodoulou
A case control and family based association study of the neuregulin1 gene and schizophrenia (16 January, 2004) Free
X Zhao, Y Shi, J Tang, R Tang, L Yu, N Gu, G Feng, S Zhu, H Liu, Y Xing, S Zhao, H Sang, Y Guan, D St Clair, L He
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 (16 January, 2004) Free
M Venturin, P Guarnieri, F Natacci, M Stabile, R Tenconi, M Clementi, C Hernandez, P Thompson, M Upadhyaya, L Larizza, P Riva
A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population (16 January, 2004) Free
C Marino, R Giorda, L Vanzin, M Nobile, M L Lorusso, C Baschirotto, L Riva, M Molteni, M Battaglia
Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy (16 January, 2004) Free
Y P Bao, S Sarkar, E Uyama, D C Rubinsztein
Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia (16 January, 2004) Free
G C Jackson, F S Barker, E Jakkula, M Czarny-Ratajczak, O Mäkitie, W G Cole, M J Wright, S F Smithson, M Suri, P Rogala, G R Mortier, C Baldock, A Wallace, R Elles, L Ala-Kokko, M D Briggs
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly (16 January, 2004) Free
R Richardson, D Donnai, F Meire, M J Dixon
TBX22 mutations are a frequent cause of cleft palate (16 January, 2004) Free
A C B Marçano, K Doudney, C Braybrook, R Squires, M A Patton, M M Lees, A Richieri-Costa, A C Lidral, J C Murray, G E Moore, P Stanier
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type (16 January, 2004) Free
G Nishimura, E Nakashima, A Mabuchi, K Shimamoto, T Shimamoto, Y Shimao, T Nagai, T Yamaguchi, R Kosaki, H Ohashi, Y Makita, S Ikegawa

Corrections

CORRECTION (16 January, 2004) Free
CORRECTION (16 January, 2004) Free
CORRECTION (16 January, 2004) Free
CORRECTION (16 January, 2004) Free

Electronic pages

Author Index (5 February, 2004) Free
Subject Index (5 February, 2004) Free

Book Review

Cancer cytogenetics: methods and protocols (16 January, 2004) Free
L Willatt

Book Review

Cleft lip and palate. From origin to treatment (16 January, 2004) Free
J Murray

Main menu

Table of contents

January 2004 - Volume 41 - 1

Hypothesis

Electronic letters

Original article

Online mutation reports

Echoes

Short reports

Letters to JMG

Corrections

Electronic pages

Book Review

Book Review

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Table of contents

January 2004 - Volume 41 - 1

Hypothesis

Electronic letters

Original article

Online mutation reports

Echoes

Short reports

Letters to JMG

Corrections

Electronic pages

Book Review

Book Review